Duchenne Muscular Dystrophy

Question 1

Pathophysiology

Who’s is it more common in?

Mean age of onset?

Answer 1

X-linked mutation of protein that stabilises muscles during repeated contractions

Males

4.5 yrs

Question 2

S+S

Development

Later

Signs

Answer 2

Floppy baby
Not walking by 18 months
Not jumping by 3 yrs
Sometimes other delays including speech

Walking/jumping difficulty
Learning difficulty

Hyporeflexia 
Reduced tone 
Calf hypertrophy 
Toe walking 
Imbalanced legs strength 
Contractures

Question 3

Investigations

Bloods

Can be done in clinic?

A more invasive option?

Answer 3

Raised creatine kinase
Genetic testing
Muscle biopsy

Question 4

Management

What can delay wheelchair dependence?

What can help with movements?

What about contractures?

What needs to be protected?

What might be needed towards the end?

Answer 4

Early steroids delay wheelchair dependence
Physiotherapy
Contracture surgery
Cardioprotective medications

Respiratory support later on

Question 5

Complications

Answer 5

Cardiomyopathy
Arhythmia
Scoliosis